Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation UNIPROT The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria. 30833296

2019
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation UNIPROT In 2006, pathogenic variants in MPV17 were first reported to cause infantile-onset hepatocerebral mtDNA depletion syndrome and Navajo neurohepatopathy. 29282788

2018
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation UNIPROT Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA. 28207748

2017
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492

2016
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation UNIPROT MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome. 27536553

2016
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation UNIPROT The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential. 25861990

2015
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation UNIPROT Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. 23714749

2014
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation UNIPROT Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy. 23829229

2014
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation UNIPROT Mitochondrial DNA depletion syndrome causing liver failure. 25129007

2014
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 Biomarker GENOMICS_ENGLAND MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle. 22508010

2012
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 Biomarker GENOMICS_ENGLAND MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle. 22508010

2012
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation UNIPROT MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. 20074988

2010
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation UNIPROT Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II. 19520594

2009
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 Biomarker GENOMICS_ENGLAND Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. 18695062

2008
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation UNIPROT Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. 18695062

2008
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation UNIPROT Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. 17694548

2007
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation UNIPROT Identification of a single missense mutation in patients with NNH confirms that the disease is probably due to a founder effect and extends the phenotypic spectrum associated with MPV17 mutations. 16909392

2006
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation UNIPROT MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. 16582910

2006
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation UNIPROT Systematic identification of human mitochondrial disease genes through integrative genomics. 16582907

2006
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 Biomarker GENOMICS_ENGLAND MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. 16582910

2006
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 Biomarker CTD_human

Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 Biomarker GENOMICS_ENGLAND